Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis

Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis

Background: Biotin–thiamine–responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. The clinical picture includes symptoms of subacute encephalopathy (e.g. confusion, dysphagia, dysarthria, and seizures), which r...

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Main Authors: Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Magdalena Pajdowska, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Paulina Halat-Wolska, Paweł Kowalski, Elżbieta Jurkiewicz, Dariusz Rokicki
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
SLC19A3
BTBGD
Biotin
Thiamine
Second thiamine-transporter
hThTr2
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000951

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http://www.sciencedirect.com/science/article/pii/S2214426921000951

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